Smad5 MGI Mouse Gene Detail - MGI:1328787

Symbol

Smad5
Name

SMAD family member 5
Synonyms

Madh5, MusMLP, Smad 5

Feature Type

protein coding gene
IDs

MGI:1328787
NCBI Gene: 17129
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr13:56850823-56890190 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 30.12 cM
Mapping Data

6 experiments

SNPs within 2kb

907 from dbSNP Build 142
Strain Annotations

18
RFLP

2

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1328787	protein coding gene	Chr13:56850804-56890191 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020623	protein coding gene	Chr13:56278865-56312534 (+)
A/J	MGP_AJ_G0020577	protein coding gene	Chr13:54175724-54207906 (+)
AKR/J	MGP_AKRJ_G0020555	protein coding gene	Chr13:55775073-55807575 (+)
BALB/cJ	MGP_BALBcJ_G0020573	protein coding gene	Chr13:54414988-54447283 (+)
C3H/HeJ	MGP_C3HHeJ_G0020372	protein coding gene	Chr13:55595455-55628633 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021007	protein coding gene	Chr13:57969867-58007545 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018589	protein coding gene	Chr13:52125989-52159051 (+)
CAST/EiJ	MGP_CASTEiJ_G0019886	protein coding gene	Chr13:55718861-55751015 (+)
CBA/J	MGP_CBAJ_G0020332	protein coding gene	Chr13:60190092-60224688 (+)
DBA/2J	MGP_DBA2J_G0020455	protein coding gene	Chr13:53723365-53755600 (+)
FVB/NJ	MGP_FVBNJ_G0020434	protein coding gene	Chr13:53196877-53230558 (+)
LP/J	MGP_LPJ_G0020531	protein coding gene	Chr13:56522606-56554801 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020463	protein coding gene	Chr13:59585160-59618774 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021050	protein coding gene	Chr13:55372494-55408379 (+)
PWK/PhJ	MGP_PWKPhJ_G0019642	protein coding gene	Chr13:53770900-53803988 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019469	protein coding gene	Chr13:54320411-54354505 (+)
WSB/EiJ	MGP_WSBEiJ_G0019948	protein coding gene	Chr13:55742579-55778904 (+)

Human Ortholog

SMAD5, SMAD family member 5

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SMAD5, SMAD family member 5
Synonyms

DWFC, JV5-1, MADH5
Links

HGNC:6771

NCBI Gene ID: 4090

neXtProt AC: NX_Q99717

UniProt: Q99717
Chr Location

5q31.1; chr5:136132845-136188747 (+) GRCh38

MGI Vertebrate Homology

Smad5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SMAD5
Gene Tree

Smad5

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Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

58 phenotypes from 4 alleles in 6 genetic backgrounds
45 phenotypes from multigenic genotypes
58 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

5
Targeted

6
Genomic Mutations

1 involving Smad5
Incidental Mutations

APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit vascular, craniofacial, and neural tube defects, improper turning, edema, and a deficiency of primordial germ cells. Mutants die between embryonic days 10.5 and 11.5.

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All GO Annotations

74
GO References

33

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1574
Tissues

336
cDNA Data

191
Literature Summary

510

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA SMAD5

ZFIN smad5

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All Sequences

67
RefSeq

14
UniProt

3
CCDS

CCDS26565.1

Ensembl

ENSMUSG00000021540 (Evidence)
NCBI Gene

17129

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021540	Ensembl Gene Model \| MGI Sequence Detail	39368	C57BL/6J	± kb
transcript	ENSMUST00000069557	Ensembl \| MGI Sequence Detail	6584	Not Applicable
polypeptide	ENSMUSP00000065798	Ensembl \| MGI Sequence Detail	465	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000000372 smad5

(term hierarchy)
PDB

5X6G, 5X6H, 5X6M
InterPro Domains

IPR013790 Dwarfin

IPR003619 MAD homology 1, Dwarfin-type

IPR013019 MAD homology, MH1

IPR001132 SMAD domain, Dwarfin-type

IPR008984 SMAD/FHA domain superfamily

IPR017855 SMAD-like domain superfamily

IPR036578 SMAD MH1 domain superfamily

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All nucleic 205

cDNA 194

Primer pair 10

Other 1

Microarray probesets 6

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MGI:1923577, MGI:2145246

Summaries

All 634

Developmental Gene Expression 510

Diseases 1

Gene Ontology 33

Phenotypes 58
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:354851 Olczak A, et al., The overexpression of R-spondin 3 affects hair morphogenesis and hair development along with the formation and maturation of the hair follicle stem cells. Front Physiol. 2024;15:1424077

TSS for Smad5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120045	Chr13:56850239-56850248 (+)	-579 bp
Tssr120046	Chr13:56850796-56850925 (+)	38 bp
Tssr120051	Chr13:56854367-56854372 (+)	3,547 bp
Tssr120052	Chr13:56876718-56876722 (+)	25,897 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24